Mutations in a Δ8-Δ7 sterol isomerase in the tattered mouse and X- linked dominant chondrodysplasia punctata

Nature Genetics

Volumn 22, Issue 3, 1999, Pages 286-290

  Derry, Jonathan M J ^a   Gormally, Emmanuelle ^b   Means, Gary D ^a   Zhao, Wei ^c   Meindl, Alfons ^d   Kelley, Richard I ^e   Boyd, Yvonne ^b   Herman, Gail E ^c  

^a AMGEN INC   (United States)

^b MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

^c OHIO STATE UNIVERSITY   (United States)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; BINDING PROTEIN; DELTA8 DELTA7 STEROL ISOMERASE; EMOPAMIL; ISOMERASE; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHONDRODYSPLASIA PUNCTATA; CONTROLLED STUDY; EMBRYO; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; MALE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SEX DIFFERENCE; STEROL METABOLISM; X CHROMOSOME DOMINANT INHERITANCE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CARRIER PROTEINS; CHONDRODYSPLASIA PUNCTATA; DNA PRIMERS; FEMALE; GENES, DOMINANT; GUINEA PIGS; HUMANS; LINKAGE (GENETICS); MALE; MICE; MICE, MUTANT STRAINS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PREGNANCY; SEQUENCE HOMOLOGY, AMINO ACID; STEROID ISOMERASES; X CHROMOSOME;

ANIMALIA;

EID: 0033037717     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/10350     Document Type: Article

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